Renal and urinary tract disorders
Region: ISCA-37432-Loss17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 1:08 p.m. | Last Modified: 16 Mar 2022, 1:08 p.m.
Panel Version: 1.22
GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616. Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Checked against the component panels, and ready to be promoted to version 1.
Region: ISCA-37432-Loss was added Region: ISCA-37432-Loss was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37432-Loss were set to Autism Spectrum Disorder; global developmental delay; RCAD syndrome; delayed development, intellectual disability; Chromosome 17q12 deletion syndrome; utero-vaginal atresia; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Schizophrenia; 614527; Renal cysts and diabetes syndrome